ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.165G>A (p.Lys55=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002963032 SCV003289171 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-01-04 criteria provided, single submitter clinical testing

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